Rare genetic inflammatory skin disorders
Gene: COL1A1
COL1A1 (collagen type I alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000108821
EnsemblGeneIds (GRCh37): ENSG00000108821
OMIM: 120150, Gene2Phenotype
COL1A1 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000108821
EnsemblGeneIds (GRCh37): ENSG00000108821
OMIM: 120150, Gene2Phenotype
COL1A1 is in 12 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
Comment on list classification: Demoted from Amber to Red inline with review by Dmitrijs Rots.Created: 16 Apr 2024, 3:44 p.m. | Last Modified: 16 Apr 2024, 3:44 p.m.
Panel Version: 3.11
Dmitrijs Rots (Children's Clinical University Hospital)
Inflammatory skin disorders is not part of the EDS phenotypeCreated: 31 Jan 2023, 11:26 a.m. | Last Modified: 31 Jan 2023, 11:26 a.m.
Panel Version: 2.1
Catherine Snow (Genomics England)
This gene was part of a gene list collated by John McGrath, KCL and Veronica Kinsler, UCL, 17.Jun.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted:COL1A1; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 9 Sep 2019, 3:38 p.m. | Last Modified: 9 Sep 2019, 3:38 p.m.
Panel Version: 0.14
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- OMIM
- 120150
- Clinvar variants
- Variants in COL1A1
- Penetrance
- None
- Panels with this gene
-
- Rare genetic inflammatory skin disorders
- Thoracic aortic aneurysm or dissection (GMS)
- Bleeding and platelet disorders
- DDG2P
- Thoracic aortic aneurysm or dissection
- Intellectual disability
- Inherited bleeding disorders
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Monogenic short stature
- Skeletal dysplasia
- Osteogenesis imperfecta
History Filter Activity
16 Apr 2024, Gel status: 1
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: col1a1 has been classified as Red List (Low Evidence).
2 Sep 2019, Gel status: 2
Created, Added New Source, Set mode of inheritance
Catherine Snow (Genomics England)gene: COL1A1 was added gene: COL1A1 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber Mode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown